Article
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.
Traffic (Copenhagen, Denmark) - 1 Jan 2007
Jaiswal Jyoti K, Marlow Gareth, Summerill Gillian, Mahjneh Ibrahim, Mueller Sebastian, Hill Maria, Miyake Katsuya, Haase Hannelore, Anderson Louise V B, Richard Isabelle, Kiuru-Enari Sari, McNeil Paul L, Simon Sanford M, Bashir Rumaisa
Abstract excerpt
Two autosomal recessive muscle diseases, limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM), are caused by mutations in the dysferlin gene. These mutations result in poor ability to repair cell membrane damage, which is suggested to be the cause for this disease. However, many patients who share clinical features with MM-type muscular dystrophy do not carry mutations in dysferlin gene. To...
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